SynthesisInternational journal of molecular sciences2015
Meta-Analysis of Multiple Sclerosis Microarray Data Reveals Dysregulation in RNA Splicing Regulatory Genes.
Synthesis in International journal of molecular sciences, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
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Who cites it
13 citing papers in PubMed, 24 citations in OpenAlex.
- RNA splicing in health and disease.Molecular biomedicine · 2026Review
- Splicing-based biomarkers define a robust multigene classifier for relapsing-remitting multiple sclerosis.Journal of translational autoimmunity · 2025Article
- Circular RNAs as disease modifiers of complex neurologic disorders.Frontiers in pharmacology · 2025Review
- Review
- hnRNP A1 dysfunction alters RNA splicing and drives neurodegeneration in multiple sclerosis (MS).Nature communications · 2024Article
- Multiple sclerosis and computational biology (Review).Biomedical reports · 2022Review
- Small noncoding RNA profiling across cellular and biofluid compartments and their implications for multiple sclerosis immunopathology.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Identification of common key genes and pathways between type 1 diabetes and multiple sclerosis using transcriptome and interactome analysis.Endocrine · 2020Article
- "International journal of molecular sciences · 2019Review
- Changes in expression profiles of internal jugular vein wall and plasma protein levels in multiple sclerosis.Molecular medicine (Cambridge, Mass.) · 2018Article
- Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions.Frontiers in genetics · 2018Article
- The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis.International journal of molecular sciences · 2017Article
- Systems Biomedicine of Rabies Delineates the Affected Signaling Pathways.Frontiers in microbiology · 2016Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Abnormalities in RNA metabolism and alternative splicing (AS) are emerging as important players in complex disease phenotypes. In particular, accumulating evidence suggests the existence of pathogenic links between multiple sclerosis (MS) and altered AS, including functional studies showing that an imbalance in alternatively-spliced isoforms may contribute to disease etiology. Here, we tested whether the altered expression of AS-related genes represents a MS-specific signature. A comprehensive comparative analysis of gene expression profiles of publicly-available microarray datasets (190 MS cases, 182 controls), followed by gene-ontology enrichment analysis, highlighted a significant enrichment for differentially-expressed genes involved in RNA metabolism/AS. In detail, a total of 17 genes were found to be differentially expressed in MS in multiple datasets, with CELF1 being dysregulated in five out of seven studies. We confirmed CELF1 downregulation in MS (p=0.0015) by real-time RT-PCRs on RNA extracted from blood cells of 30 cases and 30 controls. As a proof of concept, we experimentally verified the unbalance in alternatively-spliced isoforms in MS of the NFAT5 gene, a putative CELF1 target. In conclusion, for the first time we provide evidence of a consistent dysregulation of splicing-related genes in MS and we discuss its possible implications in modulating specific AS events in MS susceptibility genes.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.